Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

38 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
HECW2-related disorder in four Japanese patients.
Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Among authors: funatsuka m. Am J Med Genet A. 2021 Oct;185(10):2895-2902. doi: 10.1002/ajmg.a.62363. Epub 2021 May 28. Am J Med Genet A. 2021. PMID: 34047014
Corrigendum to "HECW2-related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363".
Yanagishita T, Hirade T, Yamamoto KS, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Among authors: funatsuka m. Am J Med Genet A. 2021 Dec;185(12):3926-3927. doi: 10.1002/ajmg.a.62414. Epub 2021 Jul 10. Am J Med Genet A. 2021. PMID: 34245093 No abstract available.
Renal dysfunction is rare in Fukuyama congenital muscular dystrophy.
Ishigaki K, Kato I, Murakami T, Sato T, Shichiji M, Ishiguro K, Ishizuka K, Funatsuka M, Saito K, Osawa M, Nagata S. Ishigaki K, et al. Among authors: funatsuka m. Brain Dev. 2019 Jan;41(1):43-49. doi: 10.1016/j.braindev.2018.07.012. Epub 2018 Aug 1. Brain Dev. 2019. PMID: 30077507
Aicardi-Goutières syndrome is caused by IFIH1 mutations.
Oda H, Nakagawa K, Abe J, Awaya T, Funabiki M, Hijikata A, Nishikomori R, Funatsuka M, Ohshima Y, Sugawara Y, Yasumi T, Kato H, Shirai T, Ohara O, Fujita T, Heike T. Oda H, et al. Among authors: funatsuka m. Am J Hum Genet. 2014 Jul 3;95(1):121-5. doi: 10.1016/j.ajhg.2014.06.007. Am J Hum Genet. 2014. PMID: 24995871 Free PMC article.
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T. Abe J, et al. Among authors: funatsuka m. Rheumatology (Oxford). 2014 Mar;53(3):448-58. doi: 10.1093/rheumatology/ket372. Epub 2013 Dec 3. Rheumatology (Oxford). 2014. PMID: 24300241
38 results